[Duchenne muscular dystrophy. Therapeutic principles and status after 14 years]. / Duchenne's muskeldystrofi. Behandlingsprincipper og status efter 14 år.

Eighty-one patients with Duchenne muscular dystrophy (DMD) were included in a retrospective investigation involving the period 1975-1989 with the object of describing a therapeutic programme to prevent the sequelae of the disease and to illustrate the course of the disease in the treated DMD-patients. The therapeutic programme was carried out at home under the supervision of a physiotherapist with current control examinations by specialists in neurology, orthopaedic surgery, physiurgy, pulmonary medicine and anaesthesia. Employing the Kaplan-Meier principle of calculation, it was found that the median age for cessation of ambulatory function was ten years and the age of survival 22 years. The results suggest that a daily training programme which includes prevention of contractures postpones cessation of ambulation and prolongs survival.

Complications during anaesthesia in patients with Duchenne's muscular dystrophy (a retrospective study)

The purpose of this retrospective study was to estimate the frequency and severity of anaesthetic complications in patients with Duchenne's muscular dystrophy (DMD). Forty-four boys with DMD were exposed to anaesthesia and surgery 84 times during a period of 22 years (1965-86). The procedures took place at 15 different hospitals. Retrospective examination of the case records showed: 19 cases with local analgesia without any complications, and 18 of 65 general anaesthetics with minor or more serious complications. In ten cases an increase in body temperature above 37.5 degrees C was seen, five had abdominal pain and dark-coloured urine after surgery, and three had a critical perioperative course with a resemblance to malignant hyperthermia. The complications were almost exclusively related to the use of succinylcholine. The use of succinylcholine was dispersed through all ages. Three out of the eight patients with severe complications occurred 1.5, 2.5 and 4 years before the neuromuscular disease was diagnosed. Thus an unusual course of anaesthesia in male children calls for further investigation. Although it has been stated before that succinylcholine is contraindicated in patients with Duchenne's muscular dystrophy, the drug continues to be used.

X-linked Duchenne muscular dystrophy. Motor functions and prognosis.

69 patients with x-linked Duchenne Muscular Dystrophy (DMD) were included in a retrospective investigation from 1975-1986. A mean profile of the decline of the motor functions was made by using the median age at which the patients were unable to perform specific motor functions by request. It was found that 81.2% of the personal profiles followed the pattern shown in the mean profile of the disease and that DMD is progressing in a uniform way, but with a different progression rate in every DMD patient. Good correlation between two motor functions made it possible to predict a personal prognosis of the decline of the motor functions in the DMD patient. No correlation between late walkers (later than 18 months) and rapid progression was found.

Calcification of the central nervous system in a new hereditary neurological syndrome.

A case of a new hereditary neurological condition with extensive calcifications of the central nervous system is described. The calcium deposits were especially localized to the leptomeninges, the first layer of the cerebral and cerebellar cortex, and along the ventricular wall. The neuropathological findings were in accordance with the clinic. The case was familial and the pedigree suggested an X-linked recessive inheritance.

Familial centronuclear myopathy: a clinical and pathological study.

A congenital myotubular myopathy in a family is presented. An elderly woman, her daughter and her granddaughter showed the characteristic clinical and histological pattern of the disease. It is still a matter of debate whether the disease is of myopathic or neuropathic origin. The similarity of the muscle fibre with a myotube of the fetus might point towards an arrest of the maturation after 20th week of gestation perhaps caused by a lack of a trophic factor from the motor nerve.

Significance of serum myoglobin in neuromuscular diseases and in carrier detection of Duchenne muscular dystrophy.

In a retrospective study, the serum myoglobin concentration (S-myoglobin) was determined in patients with neuromuscular diseases and in carriers of Duchenne muscular dystrophy (DMD). Myoglobin was quantified by a sensitive radioimmunoassay. Serum creatine kinase (CK, EC 2.7.3.2) activity (S-CK) and serum creatine kinase B-subunit activity (S-CKB) were determined for comparison. Sera from 70 patients with various neuromuscular diseases and from 17 female relatives of patients with DMD were analysed. Increased levels of S-myoglobin were found both in dystrophic and in spinal myopathies. Because of a marked overlap of the range of values between the different dystrophic myopathies and even between the dystrophic and the spinal myopathies, S-myoglobin is of little value in the final diagnosis of neuromuscular diseases. In the detection of carriers of DMD, simultaneous determination of S-myoglobin and S-CK gave a higher detection rate compared to the detection rate with S-CK. S-CKB was normal in all carriers and only elevated in some of the patients with DMD and limb girdle muscular dystrophy.

Early mobilization of patients with unstable fractures of the thoracic and lumbar spine. A 2-year follow-up study.

During the acute immobilization period 18 patients, with unstable fractures of the spine together with, in most cases, a spinal cord lesion, caudally of T2, were tilted in bed or on a tilting table. Twelve of these patients began the tilting already in the second week after the injury and reached +30 degrees on the 15th day, +50 degrees on the 37th day and +90 degrees on the 65th day following the injury. All patients were kept under observation at regular intervals up to 2 years. A comparison between similar patient groups, treated strictly conservatively, and the present patient groups did not show any differences either in respect to deformities in the spinal column, expected reduction in the spreading of the spinal cord lesions or in the subjective symptoms of the patients. In the hope of reducing the complications induced by protracted immobilization, the authors recommend that patients with unstable fractures of the spinal column, caudally of T2, with or without spinal cord lesion, begin a specified tilting program already in the second week following the injury.

Disc pressure measurements in para- and tetraplegic patients. A study of of mobilization and exercise in para- and tetraplegic patients.

The intradiscal lumbar pressure was measured in 10 patients with para- or tetraplegia and in one normal subject. The pressure was registered both in the horizontal position and during tilting on a table, during the performance of a standardized exercise program for the upper extremities, as well as during cough, during abdominal strain and while the subjects were being turned from the supine to the lateral position. The increase in pressure during the tilting to an angle of +30 degrees, and mostly to +50 degrees was less than the maximum pressure change during the exercises to which an immobilized patient with acute unstable fracture of the spine, was exposed daily, such as being turned, performing respiratory exercises and muscular training for the upper extremities. Provided fixation was secured with a belt, patients with unstable fractures of the thoracic and lumbar spine maybe treated with a "more active immobilization" tilting them in the bed even during the acute stage. Forward flexion exercises in the shoulder joints with hand weights produced a greater increase of the intradiscal pressure than did abduction exercises with the corresponding load. Spasticity produced a considerable increase in intradiscal pressure.

Movements in the lumbar spine during exercises of the upper extremities. A roentgenologic study in para- and tetraplegic patients.

Strengthening exercises during treatment of patients with unstable lumbar fractures produce a kyphotic or lordotic sagittal movement in the lumbar spine. These movements have been measured roentgenologically. Forward flexion exercises in the shoulder joints to 45 degrees produced a kyphotic movement, while forward flexion to 110 degrees and abduction exercises to 90 degrees produced a lordotic movement. Flexion of hips and knees to 45 degrees produced a kyphotic movement adding to the movements caused by the shoulder exercises. Increasing the load on the upper extremities produced an increase of all movements.